RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: hepatic encephalopathy
Accession: DOID:13413
browse the term
Definition: A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood. (DO)
Synonyms: exact_synonym: Fulminant Hepatic Failure with Cerebral Edema; Hepatic Stupor; Hepatic Stupors; Hepatocerebral Encephalopathies; Hepatocerebral Encephalopathy; Portal Systemic Encephalopathy; Portal-Systemic Encephalopathies; Portosystemic Encephalopathies; hepatic encephalopathies; portosystemic encephalopathy
primary_id: MESH:D006501
xref: GARD:10452 ; ICD10CM:K72 ; ICD10CM:K76.82 ; ICD9CM:572.2 ; NCI:C79596
For additional species annotation, visit the
Alliance of Genome Resources .
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Abcb1b
ATP-binding cassette, sub-family B member 1B
IEP
associated with Hypertension, Portal
RGD
PMID:24382264
RGD:10395388
NCBI chr 4:25,242,761...25,325,194
Ensembl chr 4:25,242,798...25,325,199
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Ccl2
C-C motif chemokine ligand 2
IEP
mRNA,protein:increased expression:brain, liver,serum:
RGD
PMID:29518527
RGD:14995926
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Epor
erythropoietin receptor
IEP
associated with Hypertension, Portal
RGD
PMID:24382264
RGD:10395388
NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
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G6pd
glucose-6-phosphate dehydrogenase
IEP
protein:increased expression:cerebellum
RGD
PMID:20405262
RGD:10449131
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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Gabra1
gamma-aminobutyric acid type A receptor subunit alpha 1
IEP ISO
mRNA:increased expression:brain CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15929193 PMID:15929193
RGD:6480237
NCBI chr10:26,595,151...26,650,611
Ensembl chr10:26,595,160...26,650,864
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Gabrb1
gamma-aminobutyric acid type A receptor subunit beta1
IEP ISO
mRNA:increased expression:brain CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15929193 PMID:15929193
RGD:6480237
NCBI chr14:36,068,725...36,548,946
Ensembl chr14:36,080,393...36,548,948
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Gabrg2
gamma-aminobutyric acid type A receptor subunit gamma 2
IEP ISO
mRNA:increased expression:brain CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15929193 PMID:15929193
RGD:6480237
NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346
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Gc
GC, vitamin D binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11510020 PMID:11521994
RGD:5509929
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
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Glud1
glutamate dehydrogenase 1
IEP
mRNA:decreased expression:brain
RGD
PMID:2903433
RGD:6484661
NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
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Glul
glutamate-ammonia ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10564534
NCBI chr13:65,969,053...66,035,121
Ensembl chr13:66,025,630...66,035,108
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Gria1
glutamate ionotropic receptor AMPA type subunit 1
IEP
protein:decreased expression:hippocampus, synaptosome (rat)
RGD
PMID:19450629
RGD:4108489
NCBI chr10:41,210,713...41,527,283
Ensembl chr10:41,210,713...41,527,283
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Hif1a
hypoxia inducible factor 1 subunit alpha
IEP
associated with Hypertension, Portal
RGD
PMID:24382264
RGD:10395388
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Hmox1
heme oxygenase 1
treatment
IEP
RGD
PMID:23670786
RGD:10766445
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Insr
insulin receptor
IEP
protein:decreased expression:hippocampus, cerebral cortex (rat)
RGD
PMID:28505381
RGD:14700777
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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Lta
lymphotoxin alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9696492
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Maoa
monoamine oxidase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9048767 PMID:10206825 PMID:10564534
NCBI chr X:6,032,172...6,098,308
Ensembl chr X:6,030,795...6,099,593
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Maob
monoamine oxidase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10564534
NCBI chr X:5,907,327...6,010,996
Ensembl chr X:5,907,266...6,011,003
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Nos1
nitric oxide synthase 1
IEP ISO
protein:increased expression:neocortex protein:increased expression:brain CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10206825 PMID:10564534 PMID:17083474 PMID:19763802
RGD:1642151 , RGD:5132590
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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Nos2
nitric oxide synthase 2
IEP
protein:increased expression:brain
RGD
PMID:19763802
RGD:5132590
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Oprm1
opioid receptor, mu 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11991257
NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409
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Prkdc
protein kinase, DNA-activated, catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21224054
NCBI chr11:85,040,790...85,258,357
Ensembl chr11:85,040,792...85,257,952
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Ptgs1
prostaglandin-endoperoxide synthase 1
IMP
RGD
PMID:21575628
RGD:5688266
NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
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S100b
S100 calcium binding protein B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34792689
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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Tgfb1
transforming growth factor, beta 1
treatment
ISO
RGD
PMID:30940161
RGD:14995440
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9696492 PMID:16338762
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tspo
translocator protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10206825 PMID:10564534
NCBI chr 7:114,720,188...114,730,450
Ensembl chr 7:114,720,188...114,730,450
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Gfm1
G elongation factor, mitochondrial 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
OMIM CTD ClinVar
PMID:9536098 PMID:15537906 PMID:16199547 PMID:16632485 PMID:17160893 PMID:17576681 PMID:20843780 PMID:21119709 PMID:21364917 PMID:21986555 PMID:22277967 PMID:23430926 PMID:24033266 PMID:25741868 PMID:25852744 PMID:28216230 PMID:28492532 PMID:31680380 PMID:32313153 PMID:32746448 PMID:32776492 PMID:33176815 More...
NCBI chr 2:151,700,573...151,745,477
Ensembl chr 2:151,700,564...151,745,471
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Gfm2
GTP dependent ribosome recycling factor mitochondrial 2
ISO
ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
ClinVar
PMID:28492532 PMID:29075935
NCBI chr 2:28,449,452...28,488,200
Ensembl chr 2:28,449,517...28,488,197
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Mrpl44
mitochondrial ribosomal protein L44
ISO
ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
ClinVar
PMID:25741868
NCBI chr 9:81,106,658...81,111,709
Ensembl chr 9:81,106,655...81,112,812
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Mrps22
mitochondrial ribosomal protein S22
ISO
ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
ClinVar
PMID:25741868
NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
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Nars2
asparaginyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
ClinVar
PMID:25741868
NCBI chr 1:151,300,446...151,412,086
Ensembl chr 1:151,300,467...151,413,521
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Vars2
valyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
ClinVar
PMID:25741868
NCBI chr20:3,077,132...3,087,994
Ensembl chr20:3,077,132...3,087,994
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Mpv17
mitochondrial inner membrane protein MPV17
ISO
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
ClinVar
PMID:16582910 PMID:16909392 PMID:17694548 PMID:19520594 PMID:23714749 PMID:23829229 PMID:25016221 PMID:25741868 PMID:26437932 PMID:27536553 PMID:28492532 PMID:28673863 PMID:29282788 PMID:30298599 PMID:31673878 PMID:34476298 More...
NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244
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Tfam
transcription factor A, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
OMIM CTD ClinVar
PMID:25741868 PMID:27448789 PMID:28492532
NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292
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Dguok
deoxyguanosine kinase
ISO IMP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral
OMIM CTD ClinVar RGD
PMID:9175742 PMID:9536098 PMID:11687800 PMID:11983456 PMID:12205643 PMID:12210798 PMID:14568816 PMID:14623087 PMID:15639197 PMID:15887277 PMID:16263314 PMID:16908739 PMID:17073823 PMID:17452231 PMID:17576681 PMID:18205204 PMID:19103789 PMID:19265691 PMID:22622127 PMID:23043144 PMID:24321534 PMID:25131622 PMID:25741868 PMID:26874653 PMID:27324545 PMID:28492532 PMID:28902392 PMID:29137425 PMID:29228108 PMID:30283818 PMID:30366773 PMID:30393377 PMID:30589726 PMID:30956829 PMID:31664448 PMID:32482602 PMID:30404003 PMID:31127938 More...
RGD:15039296 , RGD:15039214
NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733
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Mpv17
mitochondrial inner membrane protein MPV17
ISS
OMIM:251880
MouseDO
NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244
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